Showing entry for Putative nucleotidyltransferase MAB21L1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013347
Protein NamePutative nucleotidyltransferase MAB21L1
Uniport IdQ13394
GeneMAB21L1
Gene Id4081
DomainMab-21
Pfam PF03281  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009653 anatomical structure morphogenesis
Biological Process GO:0043010 camera-type eye development
Biological Process GO:0001654 eye development
Biological Process GO:0008284 positive regulation of cell population proliferation
molecular function GO:0005524 ATP binding
molecular function GO:0005525 GTP binding
molecular function GO:0046872 metal ion binding
molecular function GO:0016779 nucleotidyltransferase activity
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000846 BXGD000015 Agenesis
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0019572 BXGD001338 Hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0025312 BXGD001861 Meningomyelocele Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0035304 BXGD002528 Retinal Degeneration Eye Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0271385 BXGD006193 Horizontal Nystagmus Eye Diseases; Nervous System Diseases
C0426320 BXGD008557 Absent scrotum
C0431447 BXGD008690 Synophrys Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0557874 BXGD009444 Global developmental delay
C0744356 BXGD010094 Abnormality of the genital system Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1142533 BXGD011758 Smooth philtrum
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1827524 BXGD013773 Wide spaced nipples
C1840077 BXGD014434 Anteverted nostril
C1842366 BXGD014512 Low anterior hairline
C1846176 BXGD014791 Hyperactive deep tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1853738 BXGD015357 Long eyelashes
C1855285 BXGD015483 Protruding ear
C1865014 BXGD016282 Long philtrum
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021119 BXGD020559 Tented philtrum
C4023451 BXGD021190 Laterally extended eyebrow
C4316870 BXGD022707 Abnormality of the eye
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0006198 Citric acid 192.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein